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More than 1,000 different mutations in the CFTR gene have been identified in cystic fibrosis patients. The most common mutation (observed in 70% of cystic fibrosis patients) is a three-base deletion in the DNA sequence, causing an absence of a single amino acid in the protein product. About 2,500 babies are born with cystic fibrosis in the U.S. each year. More than 10 million Americans carry the cystic fibrosis gene but don't know it.

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16y ago

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